Lisa J. Edelmann

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

The paper evaluates a comprehensive pan-ethnic carrier screening panel across 282 monogenic diseases in 397,540 patients, showing it identifies 10-times more at-risk carrier couples than a two-gene panel and provides cost savings.

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.

The paper identifies a common collagen disease in Puerto Ricans using identity-by-descent mapping and genomic data from a health system.